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Fetal and Pediatric Pathology Volume 31, 2012 - Issue 3
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Research Article

Proteus Syndrome: Three Case Reports with a Review of the Literature

Jenna L. ThomasonDepartment of Pediatrics and Pathology
, BS,
C.R. AbramowskyDepartment of Pediatrics and Pathology
, MD,
Richard R. RicketsDivision of Pediatric Surgery
, MD,
John H. CulbertsonDivision of Plastic Surgery, Emory University School of Medicine
, MD,
Matthew S. CliftonDivision of Pediatric Surgery
, MD &
Bahig M. ShehataDepartment of Pediatrics and PathologyCorrespondence[email protected]
, MD
Pages 145-153 | Published online: 13 Mar 2012

REFERENCES

  • Cohen MM Jr, Hayden PW. A newly recognized hamartomatous syndrome. Birth Defects Orig Artic Ser 15(5B):291–6, 1979.
  • Wiedemann HR, Burgio GR, Aldenhoff P, Kunze J, Kaufmann HJ, Schirg E. The Proteus Syndrome: partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly, or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr 140:5–12, 1983.
  • Biesecker L. The challenges of Proteus syndrome: diagnosis and management. Eur J Hum Genet 14(11):1151–7, 2006.
  • Cohen MM Jr. Proteus syndrome: an update. Am J Med Genet C Semin Med Genet 137C(1):38–52, 2005.
  • Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A 130A(2):111–22, 2004.
  • Satter E. Proteus Syndrome: 2 case reports and a review of the literature. Cutis 80(4):297–302, 2007.
  • Zhou XP, Marsh DJ, Hampel H, Mulliken JB, Gimm O, Eng C. Germline and mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. Hum Mol Genet 9:765–8, 2000.
  • Zhou X, Hampel H, Thiele H, Gorlin RJ, Hennekam RC, Parisi M, Winter RM, Eng C. Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. Lancet 358(9277):210–1, 2001.
  • Smith JM, Kirk EP, Theodosopoulos G, Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ. Germline mutation of the tumour suppressor PTEN in Proteus syndrome. J Med Genet 39(12):937–40, 2002.
  • Barker K, Martinez A, Wang R, Bevan S, Murday V, Shipley J, Houlston R, Harper J. PTEN mutations are uncommon in Proteus syndrome. J Med Genet 38(7):480–1, 2001.
  • Cohen MM Jr, Turner JT, Biesecker LG. Proteus syndrome: misdiagnosis with PTEN mutations. Am J Med Genet A 122A(4):323–4, 2003.
  • Biesecker LG, Rosenberg MJ, Vacha S, Turner JT, Cohen MM. PTEN mutations and proteus syndrome. Lancet 358(9298):2079–80, 2001.
  • Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16(4):899–906, 1987.
  • Happle R. Cutaneous manifestation of lethal genes. Hum Genet 72(3):280, 1986.
  • Brockmann K, Happle R, Oeffner F, König A. Monozygotic twins discordant for Proteus syndrome. Am J Med Genet A 146A(16):2122–5, 2008.
  • Nguyen D, Turner JT, Olsen C, Biesecker LG, Darling TN. Cutaneous manifestations of proteus syndrome: correlations with general clinical severity. Arch Dermatol 140(8):947–53, 2004.
  • Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 84(5):389–95, 1999.
  • Satter E. Proteus syndrome: 2 case reports and a review of the literature. Cutis 80(4):297–302, 2007.
  • Twede JV, Turner JT, Biesecker LG, Darling TN. Evolution of skin lesions in Proteus syndrome. J Am Acad Dermatol 52(5):834–8, 2005.
  • Jamis-Dow CA, Turner J, Biesecker LG, Choyke PL. Radiologic manifestations of Proteus syndrome. Radiographics 24(4):1051–68, 2004.
  • Hoeger PH, Martinez A, Maerker J, Harper JI. Vascular anomalies in Proteus syndrome. Clin Exp Dermatol 29(3):222–30, 2004.
  • Nakane M, Sato M, Hattori H, Matsumoto Y, Otsuki M, Murakawa M. Perioperative respiratory complications caused by cystic lung malformation in Proteus syndrome. J Anesth 20(1):26–9, 2006.
  • Lublin M, Schwartzentruber DJ, Lukish J, Chester C, Biesecker LG, Newman KD. Principles for the surgical management of patients with Proteus syndrome and patients with overgrowth not meeting Proteus criteria. J Pediatr Surg 37(7):1013–20., 2002.
  • Li CY, Chang YL, Chen WC, Lee YC. Pulmonary manifestations and management of proteus syndrome. J Formos Med Assoc 109(5):397–400, 2010.
  • Pazzaglia UE, Beluffi G, Bonaspetti G, Ranchetti F. Bone malformations in Proteus syndrome: an analysis of bone structural changes and their evolution during growth. Pediatr Radiol 37(8):829–35, 2007.
  • Sakamoto Y, Nakajima H, Kishi K, Shimizu R, Nakajima T. Management of craniofacial hyperostosis in Proteus syndrome. J Craniofac Surg 21(2):414–8, 2010.
  • “Proteus Syndrome Foundation,” 2009, http://www.proteus-syndrome.org/ (20 December 2010).
  • Papadimitriou L, Kavalieratos CS. Proteus syndrome and sudden cardiac arrest; Beware of pulmonary embolism! Resuscitation 54(3):313–4, 2002.

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